ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106117
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65955
ClinVar RCV Id:
RCV000056202
RCV000119564
RCV001588886
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ile4938Met
CA024260
NM_000540.3:c.14814C>G